Abstract

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis. While its incidence is unknown, approximately 300 cases have been reported in the literature. The syndrome typically presents with a characteristic facial rash (poikiloderma), its diagnostic hallmark, and heterogeneous clinical features including congenital skeletal abnormalities, sparse hair distribution, juvenile cataracts, and a predisposition to osteosarcoma. Gastrointestinal symptoms, such as pyloric stenosis, anal atresia, annular pancreas, and rectovaginal fistula, have also been reported sporadically. This is a report describing a patient diagnosed with RTS referred to us because of dysphagia caused by esophageal stenosis. Long-term results of endoscopic dilation are also presented.

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Publisher Full Text

Authors

Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L

Institution

Department of Surgical and Gastroenterological Sciences Department of Medical Diagnostic Sciences and Special Therapies, Pathology Unit, Via Giustiniani 2, University of Padova, Padua, Italy. linopolese@hotmail.com

Source

Diseases of the esophagus : official journal of the International Society for Diseases of the Esophagus / I.S.D.E 24:8 2011 Nov pg E41-4

MeSH

Adolescent
Adult
Balloon Dilation
Esophageal Stenosis
Female
Humans
Hypothyroidism
Infant
Rothmund-Thomson Syndrome
Young Adult

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21951866